… Variegate porphyria (VP) is an autosomal dominant disorder with low penetrance and variable
clinical expression classified as one of the acute hepatic porphyrias [ 11. VP patients and …

… An unusual case of variegate porphyria with possible homozygous inheritance. Australian
and New Zealand J … Variegate porphyria: diagnostic value of fluorometric scanning of plasma …

… Day RS, Pimstone NR, Eales L: The diagnostic value of blood plasma porphyrin methyl
ester profiles produced by quantitative TLC. Int J Biochem 9:897-904, 1978. 17. …

… from 18 Italian families affected by Variegate Porphyria. While previous studies have …
exceptions of variegate porphyria in South Africa (37) and acute intermittent porphyria in northern …

Variegate porphyria (VP) is an inherited metabolic disease that results from the partial
deficiency of protoporphyrinogen oxidase. In this communication we have used DNA technology …

… importance are variegate porphyria… porphyrins has proved to be of great diagnostic value,
but setting the upper limits of normal too low may result in the erroneous diagnosis of porphyria…

… Genomic testing is not recommended for initial diagnosis of acute porphyrias. However, …
or variants of uncertain significance, biochemical testing that documents elevations in PBG and …

… The differentiation of these two types of porphyria, which is of particular importance … In
this first study of variegate porphyria in Switzerland, we performed mutational analysis in eight …

… Porphyrias are composed of group of diseases which define a dysfunction in heme synthesis
pathway resulting in accumulation of porphyrin precursors.Variegate porphyria (VP) is an …

… Other skin afflictions have no diagnostic value in terms of VP whatsoever—hence the
scepticism attracted by Macalpine and Hunter's advancement of rashes, erythaema, weals and …